𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion

✍ Scribed by Lorda-Sánchez, Isabel; Urioste, Miguel; Villa, Amelia; Carrascosa, María del Carmen; Vásquez, Maria Socorro; Martínez, Andrés; Martínez-Frías, María Luisa

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
169 KB
Volume
68
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

We present a case with a partial duplication 5p11→5p13.3 resulting from a maternal ins (19,5)(p11;p11-p13.3). The diagnosis was confirmed by FISH and complement component determinations. The clinical picture was similar to those described in patients with complete duplication of the short arm and in some patients with partial 5p duplications, affecting at least band 5p13. A special significance of band 5p13 in the clinical severity of 5p duplications is discussed. Am.

📜 SIMILAR VOLUMES

Proximal 5p trisomy resulting from a mar
Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome
✍ Avansino, Jeffrey R.; Dennis, Thomas R.; Spallone, Patricia; Stock, A. Dean; Lev 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

We describe an infant with trisomy of (5)(p10p13.1) resulting from a de novo marker chromosome. The marker's origin was identified by chromosome microdissection and reverse in situ hybridization. The clinical findings are compared to those of other partial and complete 5p duplications. This case fur

Case of partial trisomy 9p and partial t
Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes
✍ Angle, Brad; Yen, Frank; Cole, Cameron W. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 2 views

We report on a female infant with partial trisomy 9p (pter→p13) and partial trisomy 14q (pter→q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic pattern